title: Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia.
authors.affiliation: Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: R M
authors.initials: RM
authors.lastname: Hageman
authors.forename: F J
authors.initials: FJ
authors.lastname: Cameron
authors.forename: A H
authors.initials: AH
authors.lastname: Sinclair
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors; D004247:DNA